A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2615149



Internal ID8332021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:172016824..172018331hg38UCSC Ensembl
Outerchr1:171985964..171987471hg19UCSC Ensembl
Outerchr1:170252587..170254094hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg381508
hg191508
hg181508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5331961
SamplesNA18507
Known GenesDNM3
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2615149
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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